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Characterization and Implication of Prolactin Receptor Mutants in Human Breast Diseases

10 Years
Open (Enrolling)
Benign Breast Disease, Breast Cancer

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Trial Information

Characterization and Implication of Prolactin Receptor Mutants in Human Breast Diseases

There is currently no known genetic disease linked to prolactin (prl) or its réceptor (prlR)
in humans. In a previous work, we have identified a new mutation of prolactin receptor that
leads to it's constitutive activation and to cell proliferation signalling cascades (i.e.
through MAP kinases).

This result suggests that PRLR mutants may have a strong physiopathological impact on breast
diseases etiology and/or development and/or evolution.

Based on this, we will pursue the identification of new PRLR mutants in various breast
diseases and continue their in vitro functional characterization and then analyse their in
vivo consequences on breast tissue samples collected within these women.

1. In a first time we wish to confirm our previous results on multiple fibroadenomas
(MFA). The current cohort will be augmented with 30 to 35 new patients each year. We
will confirm our in vitro results in vivo with tumoral and peri-tumoral tissue samples.

2. We then wish to extend this study to other rare breast pathologies (i.e. gigantomastia,
phyllodies tumors, giant fibroadenomas) and to more common ones (simple fibroadenomas)
to demonstrate a link between simple FA and MFA.

3. in a third time we will try to determinate whether a constitutive activation of PRLR
leads to enhanced occurrence of benign / malign transitions.

Inclusion Criteria

Inclusion criteria :

- benign breast diseases

- 10 < age < 25 for simple FA

- 10 < age < 50 for other diseases .no hormonal treatment for at least 3 months if
patients took cyproterone acetate; 1 month for other ovaries-interfering
hormonal treatment, and 1 week for ovaries-non-interfering hormonal treatments.

- Signature of the informed consent form (icf) by patients or their legal
representative (for patients under age of 18.)

- breast cancer :

- having a breast cancer with a planned surgery

- age > 55 years

- post menopausal with not menopause substitution treatment

- signature of the icf

- control group :

- 18 < age < 60

- signature of the icf

Exclusion criteria :

- no signature or no conformity of the icf

- no social security

Type of Study:


Study Design:

Time Perspective: Cross-Sectional

Outcome Measure:

Sequencing of PRLR

Outcome Time Frame:

at inclusion

Safety Issue:


Principal Investigator

Philippe Touraine, MD, PhD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Assistance Publique - Hôpitaux de Paris


France: Ministry of Health

Study ID:




Start Date:

September 2008

Completion Date:

December 2012

Related Keywords:

  • Benign Breast Disease
  • Breast Cancer
  • Breast diseases,
  • human mutation,
  • prolactin receptor;
  • breast cancer
  • Breast Neoplasms
  • Breast Diseases
  • Fibrocystic Breast Disease